ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.957C>T (p.His319=)

dbSNP: rs1574060474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478725 SCV001683001 likely benign Congenital myasthenic syndrome 12 2024-02-29 criteria provided, single submitter clinical testing

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